Varaico: Literature-Extracted Genetic Variants

NUP188

117 papers

RefSeq Summary

The nuclear pore complex (NPC) is found on the nuclear envelope and forms a gateway that regulates the flow of proteins and RNAs between the cytoplasm and nucleoplasm. The NPC is comprised of approxim...

Pfam Domains

Nup188_Naa 31–486UCSCNucleoporin Nup188, N-terminal

Nup188_SH3-likeaa 487–528UCSCNup188 SH3-like domain

Nup188_N-subdom_IIIaa 529–940UCSCNucleoporin Nup188, N-terminal subdomain III

Gene Aliases

HGNC Name

nucleoporin 188

HGNC Previous Symbol

KIAA0169

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_015354.3

p.V342delFs

c.1026delC

Surrounding Variants

1 paper

NM_015354.3

p.V342fs

c.1024_1025fs

1 paper

NM_015354.3

p.R360_L361delFs

c.1079_1083del5

3 papers

NM_015354.3

p.Q363*

c.1087C>T

1 paper

NM_015354.3

p.G369delFs

c.1106delG

1 paper

NM_015354.3

p.I316M

c.948T>G

1 paper

NM_015354.3

p.G369fs

c.1105_1106fs

1 paper

NM_015354.3

p.D307N

c.919G>A

1 paper

NM_015354.3

p.Q304*

c.910C>T

2 papers

NM_015354.3

p.I302fs

c.904_905fs

2 papers

NM_015354.3

p.I302fs

c.904_905fs

3 papers

NM_015354.3

p.I302_C303delFs

c.904_907del4

1 paper

NM_015354.3

p.D299G

c.896A>G